Alternative Names

Causes

Galactosemia is an inherited disorder. This means it is passed down through families.

It occurs in approximately 1 out of every 60,000 births among Caucasians. The rate is different for other groups.

There are three forms of the disease:

Galactose-1 phosphate uridyl transferase deficiency (classic galactosemia, the most common and most severe form)

Deficiency of galactose kinase

Deficiency of galactose-6-phosphate epimerase

People with galactosemia are unable to fully break down the simple sugar galactose. Galactose makes up half of lactose, the sugar found in milk. The other sugar is glucose.

If an infant with galactosemia is given milk, substances made from galactose build up in the infant's system. These substances damage the liver, brain, kidneys, and eyes.

Persons with galactosemia cannot tolerate any form of milk (human or animal). They must be careful about eating other foods containing galactose.

Symptoms

Infants with galactosemia can develop symptoms in the first few days of life if they eat formula or breast milk that contains lactose. The symptoms may be due to a serious blood infection with the bacteria E. coli.

"Reducing substances" in the infant's urine, and normal or low blood sugar while the infant is being fed breast milk or a formula containing lactose

Treatment

People with this condition must avoid all milk, milk-containing products (including dry milk), and other foods that contain galactose for life. It is essential to read product labels and be an informed consumer.

When to Contact a Medical Professional

Call your health care provider if:

Your infant has a combination of galactosemia symptoms

You have a family history of galactosemia and are considering having children

Prevention

It is helpful to know your family history. If you have a family history of galactosemia and want to have children, genetic counseling will help you make decisions about pregnancy and prenatal testing. Once the diagnosis of galactosemia is made, genetic counseling is recommended for other members of the family.

Many states screen all newborns for galactosemia. If parents learn that the test indicates possible galactosemia, they should promptly stop giving their infant milk products and ask their health care provider about having a blood test done for galactosemia.